Variant report

Variant	rs73016661
Chromosome Location	chr1:165786617-165786618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr1:165786086-165786742	K562	blood:	n/a	n/a
2	GATA1	chr1:165786084-165786663	PBDEFetal	blood:	n/a	n/a
3	EP300	chr1:165786285-165786644	K562	blood:	n/a	n/a
4	GATA2	chr1:165786159-165786758	K562	blood:	n/a	n/a
5	TAL1	chr1:165786018-165786730	K562	blood:	n/a	n/a
6	MYC	chr1:165785992-165786630	K562	blood:	n/a	n/a
7	CEBPD	chr1:165786088-165786786	K562	blood:	n/a	n/a
8	POLR2A	chr1:165786338-165786663	K562	blood:	n/a	n/a
9	NR2F2	chr1:165785936-165786791	K562	blood:	n/a	n/a
10	ZNF384	chr1:165786231-165786765	K562	blood:	n/a	n/a
11	JUN	chr1:165786351-165786619	K562	blood:	n/a	n/a
12	MAX	chr1:165785766-165786675	K562	blood:	n/a	n/a
13	CCNT2	chr1:165786200-165786718	K562	blood:	n/a	n/a
14	TBL1XR1	chr1:165786174-165786720	K562	blood:	n/a	n/a
15	TBP	chr1:165786433-165786689	K562	blood:	n/a	n/a
16	POLR2A	chr1:165786272-165786623	K562	blood:	n/a	n/a
17	ARID3A	chr1:165786096-165786650	K562	blood:	n/a	n/a
18	MAX	chr1:165786392-165786621	K562	blood:	n/a	n/a
19	CBX3	chr1:165786027-165786708	K562	blood:	n/a	n/a
20	GATA1	chr1:165785823-165786741	K562	blood:	n/a	n/a
21	RCOR1	chr1:165786090-165786756	K562	blood:	n/a	n/a
22	HDAC2	chr1:165786278-165786698	K562	blood:	n/a	n/a
23	STAT5A	chr1:165786316-165786659	K562	blood:	n/a	n/a
24	ATF1	chr1:165786317-165786682	K562	blood:	n/a	n/a
25	STAT5A	chr1:165786206-165786632	K562	blood:	n/a	n/a
26	RCOR1	chr1:165786216-165786649	K562	blood:	n/a	n/a
27	GATA1	chr1:165785935-165786761	PBDE	blood:	n/a	n/a
28	POLR2A	chr1:165786332-165786655	K562	blood:	n/a	n/a
29	TEAD4	chr1:165785958-165786715	K562	blood:	n/a	n/a
30	ZMIZ1	chr1:165786138-165786694	K562	blood:	n/a	n/a
31	JUND	chr1:165786097-165786699	K562	blood:	n/a	n/a
32	EP300	chr1:165785981-165786723	K562	blood:	n/a	n/a
33	TAF1	chr1:165786329-165786688	K562	blood:	n/a	n/a
34	MAZ	chr1:165786182-165786681	K562	blood:	n/a	n/a
35	PML	chr1:165786246-165786639	K562	blood:	n/a	n/a
36	PML	chr1:165786296-165786687	K562	blood:	n/a	n/a
37	UBTF	chr1:165786175-165786687	K562	blood:	n/a	n/a
38	GATA2	chr1:165786249-165786718	K562	blood:	n/a	n/a
39	CEBPD	chr1:165786204-165786823	K562	blood:	n/a	n/a
40	ZNF143	chr1:165786206-165786631	K562	blood:	n/a	n/a
41	HMGN3	chr1:165786236-165786709	K562	blood:	n/a	n/a
42	TBL1XR1	chr1:165786435-165786631	K562	blood:	n/a	n/a
43	NR2F2	chr1:165786312-165786752	K562	blood:	n/a	n/a
44	GATA2	chr1:165786039-165786713	K562	blood:	n/a	n/a
45	TEAD4	chr1:165785949-165786713	K562	blood:	n/a	n/a
46	BHLHE40	chr1:165785073-165786670	K562	blood:	n/a	n/a
47	CEBPB	chr1:165786357-165786703	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165780927..165783548-chr1:165784914..165787282,2	K562	blood:
2	chr1:165738281..165740452-chr1:165785829..165787705,2	K562	blood:
3	chr1:165783564..165786878-chr1:165795722..165800195,9	K562	blood:
4	chr1:165742597..165744682-chr1:165785912..165787963,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230659	TF binding region
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10918257	1.00[AMR][1000 genomes]
rs10918269	1.00[AMR][1000 genomes]
rs10918273	1.00[AMR][1000 genomes]
rs10918275	1.00[AMR][1000 genomes]
rs10918277	1.00[AMR][1000 genomes]
rs12059327	1.00[AMR][1000 genomes]
rs12060158	1.00[AMR][1000 genomes]
rs12063717	1.00[AMR][1000 genomes]
rs12077653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084371	1.00[AMR][1000 genomes]
rs12092685	1.00[AMR][1000 genomes]
rs12094264	1.00[AMR][1000 genomes]
rs12096363	1.00[AMR][1000 genomes]
rs12097756	1.00[AMR][1000 genomes]
rs16849835	1.00[AMR][1000 genomes]
rs16850119	1.00[AMR][1000 genomes]
rs41510944	1.00[AMR][1000 genomes]
rs60361398	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6683657	1.00[AMR][1000 genomes]
rs6703094	1.00[AMR][1000 genomes]
rs73016649	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73016655	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73016667	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73018505	1.00[AMR][1000 genomes]
rs7522083	1.00[AMR][1000 genomes]
rs7525496	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv517792	chr1:165785503-165811729	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
4	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165785000-165787600	Enhancers	Fetal Heart	heart
2	chr1:165785400-165788000	Weak transcription	Gastric	stomach
3	chr1:165785600-165790600	Weak transcription	Right Atrium	heart
4	chr1:165786600-165787600	Enhancers	K562	blood

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